Molecular insights into the aetiology of female reproductive ageing

Transitions in Body and Behavior: A Meta-Analytic Study on the Relationship Between Pubertal Development and Adolescent Sexual Behavior

(2015) Laura Baams et al.   JOURNAL OF ADOLESCENT HEALTH

A Shared Genetic Basis for Self-Limited Delayed Puberty and Idiopathic Hypogonadotropic Hypogonadism

(2015) Jia Zhu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Body mass index and age at natural menopause

(2015) Xingyong Tao et al.   MENOPAUSE-THE JOURNAL OF THE NORTH AMERICAN MENOPAUSE SOCIETY

Homeodomain Proteins SIX3 and SIX6 Regulate Gonadotrope-specific Genes During Pituitary Development

(2015) Huimin Xie et al.   MOLECULAR ENDOCRINOLOGY

New genetic loci link adipose and insulin biology to body fat distribution

(2015) Dmitry Shungin et al.   NATURE

Genetic studies of body mass index yield new insights for obesity biology

(2015) Adam E. Locke et al.   NATURE

Licensing of Primordial Germ Cells for Gametogenesis Depends on Genital Ridge Signaling

(2015) Yueh-Chiang Hu et al.   PLoS Genetics

Puberty timing associated with diabetes, cardiovascular disease and also diverse health outcomes in men and women: the UK Biobank study

(2015) Felix R Day et al.   Scientific Reports

MCM9 Mutations Are Associated with Ovarian Failure, Short Stature, and Chromosomal Instability

(2014) Michelle A. Wood-Trageser et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Examining Variation in Recombination Levels in the Human Female: A Test of the Production-Line Hypothesis

(2014) Ross Rowsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autoimmune primary ovarian insufficiency

(2014) C.A. Silva et al.   AUTOIMMUNITY REVIEWS

Reproductive risk factors and breast cancer subtypes: a review of the literature

(2014) Kristin N. Anderson et al.   BREAST CANCER RESEARCH AND TREATMENT

GABA Promotes Human  -Cell Proliferation and Modulates Glucose Homeostasis

(2014) I. Purwana et al.   DIABETES

Kisspeptin Receptor Haplo-insufficiency Causes Premature Ovarian Failure Despite Preserved Gonadotropin Secretion

(2014) Francisco Gaytan et al.   ENDOCRINOLOGY

Genome-wide association study of sexual maturation in males and females highlights a role for body mass and menarche loci in male puberty

(2014) Diana L. Cousminer et al.   HUMAN MOLECULAR GENETICS

Socioeconomic position, lifestyle factors and age at natural menopause: a systematic review and meta-analyses of studies across six continents

(2014) Danielle AJM Schoenaker et al.   INTERNATIONAL JOURNAL OF EPIDEMIOLOGY

Exome Sequencing Reveals SYCE1 Mutation Associated With Autosomal Recessive Primary Ovarian Insufficiency

(2014) Liat de Vries et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability

(2014) Saleh AlAsiri et al.   JOURNAL OF CLINICAL INVESTIGATION

Deconstructing transcriptional heterogeneity in pluripotent stem cells

(2014) Roshan M. Kumar et al.   NATURE

Parent-of-origin-specific allelic associations among 106 genomic loci for age at menarche

(2014) John R. B. Perry et al.   NATURE

Mutations in HFM1 in Recessive Primary Ovarian Insufficiency

(2014) Jian Wang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutant Cohesin in Premature Ovarian Failure

(2014) Sandrine Caburet et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ovarian germline stem cells

(2014) Cheryl E Dunlop et al.   Stem Cell Research & Therapy

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

(2013) Emma M. Jenkinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

(2013) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lin28: Primal Regulator of Growth and Metabolism in Stem Cells

(2013) Ng Shyh-Chang et al.   Cell Stem Cell

Age at Menarche and Type 2 Diabetes Risk: The EPIC-InterAct study

(2013) C. E. Elks et al.   DIABETES CARE

Unsaturated Fatty Acids Disrupt Smad Signaling in Gonadotrope Cells Leading to Inhibition of FSHβ Gene Expression

(2013) Ghislaine Garrel et al.   ENDOCRINOLOGY

Prenatal and Infant Exposures and Age at Menarche

(2013) Aimee A. D’Aloisio et al.   EPIDEMIOLOGY

Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency

(2013) Anna Murray et al.   GENETICS IN MEDICINE

Approach to the Patient With Hypogonadotropic Hypogonadism

(2013) Letícia Ferreira Gontijo Silveira et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The IGSF1 Deficiency Syndrome: Characteristics of Male and Female Patients

(2013) S. D. Joustra et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Treatment and Outcomes of Precocious Puberty: An Update

(2013) John S. Fuqua   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The MCM8-MCM9 Complex Promotes RAD51 Recruitment at DNA Damage Sites To Facilitate Homologous Recombination

(2013) J. Park et al.   MOLECULAR AND CELLULAR BIOLOGY

Epigenetic control of female puberty

(2013) Alejandro Lomniczi et al.   NATURE NEUROSCIENCE

Central Precocious Puberty Caused by Mutations in the Imprinted Gene MKRN3

(2013) Ana Paula Abreu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Releasing the Brake on Puberty

(2013) Ieuan A. Hughes   NEW ENGLAND JOURNAL OF MEDICINE

Impairment of BRCA1-Related DNA Double-Strand Break Repair Leads to Ovarian Aging in Mice and Humans

(2013) S. Titus et al.   Science Translational Medicine

Body Mass Index, Exercise, and Other Lifestyle Factors in Relation to Age at Natural Menopause: Analyses From the Breakthrough Generations Study

(2012) D. H. Morris et al.   AMERICAN JOURNAL OF EPIDEMIOLOGY

Age at Menopause, Reproductive Life Span, and Type 2 Diabetes Risk: Results from the EPIC-InterAct study

(2012) J. S. Brand et al.   DIABETES CARE

Fragile X premutation RNA is sufficient to cause primary ovarian insufficiency in mice

(2012) Cuiling Lu et al.   HUMAN MOLECULAR GENETICS

Pubertal timing and adult obesity and cardiometabolic risk in women and men: a systematic review and meta-analysis

(2012) P Prentice et al.   INTERNATIONAL JOURNAL OF OBESITY

Ovarian Abnormalities in a Mouse Model of Fragile X Primary Ovarian Insufficiency

(2012) Gloria E. Hoffman et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

MCM8- and MCM9-Deficient Mice Reveal Gametogenesis Defects and Genome Instability Due to Impaired Homologous Recombination

(2012) Malik Lutzmann et al.   MOLECULAR CELL

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

(2012) Yu Sun et al.   NATURE GENETICS

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

(2012) Lisette Stolk et al.   NATURE GENETICS

New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism

(2012) Momoko Horikoshi et al.   NATURE GENETICS

Oocyte formation by mitotically active germ cells purified from ovaries of reproductive-age women

(2012) Yvonne A R White et al.   NATURE MEDICINE

Human aneuploidy: mechanisms and new insights into an age-old problem

(2012) So I. Nagaoka et al.   NATURE REVIEWS GENETICS

Human TNRC6A is an Argonaute-navigator protein for microRNA-mediated gene silencing in the nucleus

(2012) K. Nishi et al.   RNA

The Lin28/let-7 Axis Regulates Glucose Metabolism

(2011) Hao Zhu et al.   CELL

The Birth Weight Lowering C-Allele of rs900400 Near LEKR1 and CCNL1 Associates with Elevated Insulin Release following an Oral Glucose Challenge

(2011) Ehm A. Andersson et al.   PLoS One

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

(2011) S. B. Pierce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Toward gene therapy of premature ovarian failure: intraovarian injection of adenovirus expressing human FSH receptor restores folliculogenesis in FSHR(-/-) FORKO mice

(2010) M. Ghadami et al.   MOLECULAR HUMAN REPRODUCTION

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

(2010) Josée Dupuis et al.   NATURE GENETICS

Genetic Markers of Adult Obesity Risk Are Associated with Greater Early Infancy Weight Gain and Growth

(2010) Cathy E. Elks et al.   PLOS MEDICINE

Association of BRCA1 Mutations With Occult Primary Ovarian Insufficiency: A Possible Explanation for the Link Between Infertility and Breast/Ovarian Cancer Risks

(2009) Kutluk Oktay et al.   JOURNAL OF CLINICAL ONCOLOGY

Testing ovarian reserve to predict age at menopause

(2009) C.B. Lambalk et al.   MATURITAS

Premature menopause or early menopause: Long-term health consequences

(2009) Lynne T. Shuster et al.   MATURITAS

Production of offspring from a germline stem cell line derived from neonatal ovaries

(2009) Kang Zou et al.   NATURE CELL BIOLOGY

Meta-analysis of genome-wide association data identifies two loci influencing age at menarche

(2009) John R B Perry et al.   NATURE GENETICS

Genome-wide association studies identify loci associated with age at menarche and age at natural menopause

(2009) Chunyan He et al.   NATURE GENETICS

Genome-wide association study identifies sequence variants on 6q21 associated with age at menarche

(2009) Patrick Sulem et al.   NATURE GENETICS

Genetic variation in LIN28B is associated with the timing of puberty

(2009) Ken K Ong et al.   NATURE GENETICS

Genetics of reproductive lifespan

(2009) Patricia Hartge   NATURE GENETICS

The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism

(2009) Suzy D. C. Bianco et al.   Nature Reviews Endocrinology

Mutations inNR5A1Associated with Ovarian Insufficiency

(2009) Diana Lourenço et al.   NEW ENGLAND JOURNAL OF MEDICINE

Transcription Factor FIGLA is Mutated in Patients with Premature Ovarian Failure

(2008) Han Zhao et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetic investigation of four meiotic genes in women with premature ovarian failure

(2008) Béatrice Mandon-Pépin et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Alterations in the expression, structure and function of progesterone receptor membrane component-1 (PGRMC1) in premature ovarian failure

(2008) Mahmoud Reza Mansouri et al.   HUMAN MOLECULAR GENETICS

TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction

(2008) A Kemal Topaloglu et al.   NATURE GENETICS

AGPR54-Activating Mutation in a Patient with Central Precocious Puberty

(2008) Milena Gurgel Teles et al.   NEW ENGLAND JOURNAL OF MEDICINE

Menopause and the human hypothalamus: Evidence for the role of kisspeptin/neurokinin B neurons in the regulation of estrogen negative feedback

(2008) Naomi E. Rance   PEPTIDES